Global Variome shared LOVD

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Phenotype #0000300995 Individual ID 00408877 Associated disease - Phenotype details Vision: none, severe learning disability; Bilateral retinal detachment, posterior vitre- ous opacities; unaffected brother has P133T muta- tion Diagnosis/Initial bilateral anophthalmia Inheritance Complex Diagnosis/Definite - Age/Examination 11y1m (11 years, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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